This report describes 11 patients with Rubinstein-Taybi syndrome (RTS) and patellar dislocation. The age at diagnosis of patellar dislocation ranged from birth to 16 years. Ten patients had chronic dislocations and 8 of 11 had bilateral patellar dislocations. Eight patients required surgical stabili
Pilomatrixomas in Rubinstein-Taybi syndrome
โ Scribed by Masuno, Mitsuo; Imaizumi, Kiyoshi; Ishii, Takuma; Kuroki, Yoshikazu; Baba, Naoko; Tanaka, Yukichi
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 6 KB
- Volume
- 77
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980428)77:1<81::aid-ajmg19>3.0.co;2-k
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
## Rubinstein -Taybi syndrome (RTS) is a rare multiple congenital anomaly syndrome comprising mental and growth retardation, broad thumbs and great toes, and an unusual face. The classical facial appearance is well-established, striking and easy to recognize. It includes downslant of the palpebral
The Rubinstein-Taybi syndrome (RTS) is a well-defined entity characterized by growth and mental retardation, broad thumbs and halluces, and typical face. The RTS locus was assigned to 16p13.3, and interstitial submicroscopic deletions of this region (RT1 cosmid, D16S237) were initially identified in
A 7-year-old girl with Rubinstein-Taybi syndrome (RTS) who had a history of neuroblastoma and premature thelarche is reported. The neuroblastoma was detected at age 6 months on a nation-wide neuroblastoma screening program, surgically removed, and took a favorable clinical course with minimal therap
Most reported microdeletions of the CREBbinding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3 region of the gene. In order to test the hypothesis that the rate of microdeletionpositive